Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2700
Gene name Gene Name - the full gene name approved by the HGNC.	Gap junction protein alpha 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GJA3
Synonyms (NCBI Gene) Gene synonyms aliases	CTRCT14, CX46, CZP3
Chromosome Chromosome number	13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	13q12.11
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]

Show/Hide all(14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121917823	T>C	Pathogenic	Missense variant, coding sequence variant
rs121917825	G>A	Pathogenic	Missense variant, coding sequence variant
rs121917827	C>T	Pathogenic	Missense variant, coding sequence variant
rs140332366	T>A,C,G	Pathogenic	Missense variant, coding sequence variant
rs397514703	C>T	Pathogenic	Coding sequence variant, missense variant
rs397514704	A>T	Pathogenic	Coding sequence variant, missense variant
rs398122937	C>T	Pathogenic	Coding sequence variant, missense variant
rs864309687	G>A	Pathogenic	Coding sequence variant, missense variant
rs864309691	G>A	Pathogenic	Coding sequence variant, missense variant
rs864309694	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs981126461	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1114167307	G>A	Pathogenic	Coding sequence variant, missense variant
rs1114167308	T>G	Pathogenic	Coding sequence variant, missense variant
rs1593332981	->G	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(131)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045585	hsa-miR-149-5p	CLASH	23622248
MIRT1019627	hsa-miR-106a	CLIP-seq
MIRT1019628	hsa-miR-106b	CLIP-seq
MIRT1019629	hsa-miR-1245	CLIP-seq
MIRT1019630	hsa-miR-1256	CLIP-seq
MIRT1019631	hsa-miR-1271	CLIP-seq
MIRT1019632	hsa-miR-129-5p	CLIP-seq
MIRT1019633	hsa-miR-1297	CLIP-seq
MIRT1019634	hsa-miR-1305	CLIP-seq
MIRT1019635	hsa-miR-130a	CLIP-seq
MIRT1019636	hsa-miR-130b	CLIP-seq
MIRT1019637	hsa-miR-17	CLIP-seq
MIRT1019638	hsa-miR-182	CLIP-seq
MIRT1019639	hsa-miR-193a-3p	CLIP-seq
MIRT1019640	hsa-miR-193b	CLIP-seq
MIRT1019641	hsa-miR-200b	CLIP-seq
MIRT1019642	hsa-miR-200c	CLIP-seq
MIRT1019643	hsa-miR-20a	CLIP-seq
MIRT1019644	hsa-miR-20b	CLIP-seq
MIRT1019645	hsa-miR-26a	CLIP-seq
MIRT1019646	hsa-miR-26b	CLIP-seq
MIRT1019647	hsa-miR-301a	CLIP-seq
MIRT1019648	hsa-miR-301b	CLIP-seq
MIRT1019649	hsa-miR-3136-5p	CLIP-seq
MIRT1019650	hsa-miR-338-5p	CLIP-seq
MIRT1019651	hsa-miR-3591-5p	CLIP-seq
MIRT1019652	hsa-miR-3606	CLIP-seq
MIRT1019653	hsa-miR-3609	CLIP-seq
MIRT1019654	hsa-miR-361-3p	CLIP-seq
MIRT1019655	hsa-miR-3614-5p	CLIP-seq
MIRT1019656	hsa-miR-3663-3p	CLIP-seq
MIRT1019657	hsa-miR-3666	CLIP-seq
MIRT1019658	hsa-miR-429	CLIP-seq
MIRT1019659	hsa-miR-4290	CLIP-seq
MIRT1019660	hsa-miR-4295	CLIP-seq
MIRT1019661	hsa-miR-4434	CLIP-seq
MIRT1019662	hsa-miR-4439	CLIP-seq
MIRT1019663	hsa-miR-4465	CLIP-seq
MIRT1019664	hsa-miR-4470	CLIP-seq
MIRT1019665	hsa-miR-4473	CLIP-seq
MIRT1019666	hsa-miR-4513	CLIP-seq
MIRT1019667	hsa-miR-4516	CLIP-seq
MIRT1019668	hsa-miR-4531	CLIP-seq
MIRT1019669	hsa-miR-454	CLIP-seq
MIRT1019670	hsa-miR-4671-3p	CLIP-seq
MIRT1019671	hsa-miR-4699-3p	CLIP-seq
MIRT1019672	hsa-miR-4720-5p	CLIP-seq
MIRT1019673	hsa-miR-4735-5p	CLIP-seq
MIRT1019674	hsa-miR-4775	CLIP-seq
MIRT1019675	hsa-miR-4796-3p	CLIP-seq
MIRT1019676	hsa-miR-4799-3p	CLIP-seq
MIRT1019677	hsa-miR-483-3p	CLIP-seq
MIRT1019678	hsa-miR-498	CLIP-seq
MIRT1019679	hsa-miR-519d	CLIP-seq
MIRT1019680	hsa-miR-548ah	CLIP-seq
MIRT1019681	hsa-miR-548n	CLIP-seq
MIRT1019682	hsa-miR-548t	CLIP-seq
MIRT1019683	hsa-miR-561	CLIP-seq
MIRT1019684	hsa-miR-587	CLIP-seq
MIRT1019685	hsa-miR-590-3p	CLIP-seq
MIRT1019686	hsa-miR-599	CLIP-seq
MIRT1019687	hsa-miR-668	CLIP-seq
MIRT1019688	hsa-miR-892b	CLIP-seq
MIRT1019689	hsa-miR-921	CLIP-seq
MIRT1019690	hsa-miR-93	CLIP-seq
MIRT1019691	hsa-miR-943	CLIP-seq
MIRT1019692	hsa-miR-96	CLIP-seq
MIRT2001951	hsa-miR-1208	CLIP-seq
MIRT2001952	hsa-miR-1238	CLIP-seq
MIRT2001953	hsa-miR-138	CLIP-seq
MIRT2001954	hsa-miR-3689d	CLIP-seq
MIRT2001955	hsa-miR-4325	CLIP-seq
MIRT2001956	hsa-miR-4443	CLIP-seq
MIRT2001957	hsa-miR-4456	CLIP-seq
MIRT2001958	hsa-miR-452	CLIP-seq
MIRT2001959	hsa-miR-4676-3p	CLIP-seq
MIRT2001960	hsa-miR-4686	CLIP-seq
MIRT2001961	hsa-miR-4747-5p	CLIP-seq
MIRT2001962	hsa-miR-519a	CLIP-seq
MIRT2001963	hsa-miR-519b-3p	CLIP-seq
MIRT2001964	hsa-miR-519c-3p	CLIP-seq
MIRT2001965	hsa-miR-541	CLIP-seq
MIRT1019682	hsa-miR-548t	CLIP-seq
MIRT2001966	hsa-miR-595	CLIP-seq
MIRT2001967	hsa-miR-654-5p	CLIP-seq
MIRT2001968	hsa-miR-659	CLIP-seq
MIRT2001969	hsa-miR-9	CLIP-seq
MIRT2235001	hsa-miR-3150b-3p	CLIP-seq
MIRT2001954	hsa-miR-3689d	CLIP-seq
MIRT2235002	hsa-miR-3921	CLIP-seq
MIRT2235003	hsa-miR-4258	CLIP-seq
MIRT2235004	hsa-miR-4436a	CLIP-seq
MIRT2001956	hsa-miR-4443	CLIP-seq
MIRT2235005	hsa-miR-4649-3p	CLIP-seq
MIRT2235006	hsa-miR-4653-5p	CLIP-seq
MIRT2235007	hsa-miR-4689	CLIP-seq
MIRT1019674	hsa-miR-4775	CLIP-seq
MIRT2235008	hsa-miR-4784	CLIP-seq
MIRT1019675	hsa-miR-4796-3p	CLIP-seq
MIRT2235009	hsa-miR-515-5p	CLIP-seq
MIRT2235010	hsa-miR-539	CLIP-seq
MIRT1019682	hsa-miR-548t	CLIP-seq
MIRT1019685	hsa-miR-590-3p	CLIP-seq
MIRT2235011	hsa-miR-593	CLIP-seq
MIRT2001966	hsa-miR-595	CLIP-seq
MIRT2235012	hsa-miR-888	CLIP-seq
MIRT2001954	hsa-miR-3689d	CLIP-seq
MIRT2001956	hsa-miR-4443	CLIP-seq
MIRT2388470	hsa-miR-548ac	CLIP-seq
MIRT2388471	hsa-miR-548ae	CLIP-seq
MIRT2388472	hsa-miR-548aj	CLIP-seq
MIRT2388473	hsa-miR-548am	CLIP-seq
MIRT2388474	hsa-miR-548d-3p	CLIP-seq
MIRT1019682	hsa-miR-548t	CLIP-seq
MIRT2388475	hsa-miR-548x	CLIP-seq
MIRT2388476	hsa-miR-548z	CLIP-seq
MIRT2001966	hsa-miR-595	CLIP-seq
MIRT2388477	hsa-miR-646	CLIP-seq
MIRT2450284	hsa-miR-3123	CLIP-seq
MIRT2450285	hsa-miR-3925-5p	CLIP-seq
MIRT2450286	hsa-miR-4759	CLIP-seq
MIRT2538852	hsa-miR-4263	CLIP-seq
MIRT2538853	hsa-miR-548a-3p	CLIP-seq
MIRT2538854	hsa-miR-548e	CLIP-seq
MIRT2538855	hsa-miR-548f	CLIP-seq
MIRT2538856	hsa-miR-576-5p	CLIP-seq
MIRT2538852	hsa-miR-4263	CLIP-seq
MIRT2538853	hsa-miR-548a-3p	CLIP-seq
MIRT2538854	hsa-miR-548e	CLIP-seq
MIRT2538855	hsa-miR-548f	CLIP-seq
MIRT2538856	hsa-miR-576-5p	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005243	Function	Gap junction channel activity	IBA
GO:0005243	Function	Gap junction channel activity	IEA
GO:0005886	Component	Plasma membrane	IDA	30044662
GO:0005886	Component	Plasma membrane	IEA
GO:0005921	Component	Gap junction	IEA
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IDA	30044662
GO:0005922	Component	Connexin complex	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0007601	Process	Visual perception	IEA
GO:0016020	Component	Membrane	IEA
GO:0055077	Function	Gap junction hemi-channel activity	IDA	30044662
GO:0055085	Process	Transmembrane transport	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:1990349	Process	Gap junction-mediated intercellular transport	IDA	30044662
GO:1990349	Process	Gap junction-mediated intercellular transport	IEA

MIM	HGNC	e!Ensembl
121015	4277	ENSG00000121743

Protein

UniProt ID

Q9Y6H8

Protein name

Gap junction alpha-3 protein (Connexin-46) (Cx46)

Protein function

Structural component of lens fiber gap junctions (PubMed:30044662). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells (By similarity). They are formed by the docking of two hexameric hemichannels, one from each

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00029	Connexin	3 → 227	Connexin	Family

Sequence

MGDWSFLGRLLENAQEHSTVIGKVWLTVLFIFRILVLGAAAEDVWGDEQSDFTCNTQQPG
CENVCYDRAFPISHIRFWALQIIFVSTPTLIYLGHVLHIVRMEEKKKEREEEEQLKRESP
SPKEPPQDNPSSRDDRGRVRMAGALLRTYVFNIIFKTLFEVGFIAGQYFLYGFELKPLYR
CDRWPCPNTVDCFISRPTEKTIFIIFMLAVACASLLLNMLEIYHLGWKKLKQGVTSRLGP
DASEAPLGTADPPPLPPSSRPPAVAIGFPPYYAHTAAPLGQARAVGYPGAPPPAADFKLL
ALTEARGKGQSAKLYNGHHHLLMTEQNWANQAAERQPPALKAYPAASTPAAPSPVGSSSP
PLAHEAEAGAAPLLLDGSGSSLEGSALAGTPEEEEQAVTTAAQMHQPPLPLGDPGRASKA
SRASSGRARPEDLAI

Sequence length

435

Interactions

View interactions

	Reactome
			Gap junction assembly

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cataract	Developmental cataract, Cataract 14 multiple types	rs864309687, rs864309691, rs121917823, rs1114167307, rs1593332981, rs121917825, rs121917827, rs981126461, rs140332366, rs397514703, rs398122937	N/A
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	congenital cataracts-facial dysmorphism-neuropathy syndrome	rs1114167307	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Pulverulent Cataract	pulverulent cataract	N/A	N/A	GenCC

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adrenocortical Carcinoma Hereditary	Associate	38178039
Amyotrophic Lateral Sclerosis	Associate	35312356
Aphasia Wernicke	Associate	38178039
Atherosclerosis	Stimulate	28901429
Breast Neoplasms	Associate	23374644, 40148950
Breast Neoplasms	Stimulate	34830485
Cardiomyopathy Dilated	Inhibit	28934278
Cataract	Associate	10205266, 15208569, 16254549, 16885921, 16971895, 17615540, 20431721, 21386927, 21552498, 21647269, 21897748, 22550389, 22876138, 23592915, 23734083 View all (15 more)
Cataract Age Related Nuclear	Associate	21386927
Cataract Autosomal Dominant	Associate	14627959, 15208569, 16885921, 22312188, 23592915, 28877251
Cataract Autosomal Dominant Nuclear	Associate	14627959, 15208569, 15448617, 18334946, 21552498
Cataract Coppock Like	Associate	22876138
Cataract Crystalline Coralliform	Associate	22312188, 23592915
Cataract Nuclear Progressive	Associate	35008666
Cataract Pulverulent	Associate	21647269, 27609163, 29934635, 38178039
Cataract zonular	Associate	29934635, 40175916
Cataract Zonular Pulverulent 1	Associate	10205266, 16885921
Chromosome Aberrations	Associate	29934635
Drug Related Side Effects and Adverse Reactions	Associate	35312356
Genetic Diseases Inborn	Associate	23592915
Glaucoma	Associate	37589989
Glioma	Associate	34830485
Lymphedema	Associate	17615540
Multiple Pterygium Syndrome Autosomal Dominant	Associate	21897748
Neoplasms	Inhibit	23313578
Neoplasms	Associate	25314065, 40148950
Neoplasms	Stimulate	34830485
Neoplastic Syndromes Hereditary	Associate	23734083, 31842807
Neurotoxicity Syndromes	Associate	35312356
Polyps	Associate	25314065
Retinal Detachment	Associate	37589989
Sarcoma Ewing	Associate	23313578

GJA3 (gap junction protein alpha 3)